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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 20-63741380-GGA-AGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63741380&ref=GGA&alt=AGG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC2A4RG",
"hgnc_id": 15930,
"hgvs_c": "c.292_294delGGAinsAGG",
"hgvs_p": "p.Gly98Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_020062.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 387,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 429,
"cds_end": null,
"cds_length": 1164,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020062.4",
"gene_hgnc_id": 15930,
"gene_symbol": "SLC2A4RG",
"hgvs_c": "c.292_294delGGAinsAGG",
"hgvs_p": "p.Gly98Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000266077.5",
"protein_coding": true,
"protein_id": "NP_064446.2",
"strand": true,
"transcript": "NM_020062.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 387,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 429,
"cds_end": null,
"cds_length": 1164,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000266077.5",
"gene_hgnc_id": 15930,
"gene_symbol": "SLC2A4RG",
"hgvs_c": "c.292_294delGGAinsAGG",
"hgvs_p": "p.Gly98Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020062.4",
"protein_coding": true,
"protein_id": "ENSP00000266077.2",
"strand": true,
"transcript": "ENST00000266077.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1328,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000493772.5",
"gene_hgnc_id": 15930,
"gene_symbol": "SLC2A4RG",
"hgvs_c": "n.129_131delGGAinsAGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000493772.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 406,
"aa_ref": "G",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 484,
"cds_end": null,
"cds_length": 1221,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946584.1",
"gene_hgnc_id": 15930,
"gene_symbol": "SLC2A4RG",
"hgvs_c": "c.349_351delGGAinsAGG",
"hgvs_p": "p.Gly117Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616643.1",
"strand": true,
"transcript": "ENST00000946584.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 387,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1164,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946585.1",
"gene_hgnc_id": 15930,
"gene_symbol": "SLC2A4RG",
"hgvs_c": "c.292_294delGGAinsAGG",
"hgvs_p": "p.Gly98Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616644.1",
"strand": true,
"transcript": "ENST00000946585.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 386,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1778,
"cdna_start": 397,
"cds_end": null,
"cds_length": 1161,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922157.1",
"gene_hgnc_id": 15930,
"gene_symbol": "SLC2A4RG",
"hgvs_c": "c.292_294delGGAinsAGG",
"hgvs_p": "p.Gly98Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592216.1",
"strand": true,
"transcript": "ENST00000922157.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 330,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1662,
"cdna_start": 446,
"cds_end": null,
"cds_length": 993,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922156.1",
"gene_hgnc_id": 15930,
"gene_symbol": "SLC2A4RG",
"hgvs_c": "c.292_294delGGAinsAGG",
"hgvs_p": "p.Gly98Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592215.1",
"strand": true,
"transcript": "ENST00000922156.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1558,
"cdna_start": 397,
"cds_end": null,
"cds_length": 942,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872204.1",
"gene_hgnc_id": 15930,
"gene_symbol": "SLC2A4RG",
"hgvs_c": "c.292_294delGGAinsAGG",
"hgvs_p": "p.Gly98Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542263.1",
"strand": true,
"transcript": "ENST00000872204.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 364,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": null,
"cds_end": null,
"cds_length": 1095,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946586.1",
"gene_hgnc_id": 15930,
"gene_symbol": "SLC2A4RG",
"hgvs_c": "c.282-59_282-57delGGAinsAGG",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616645.1",
"strand": true,
"transcript": "ENST00000946586.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 624,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000474248.5",
"gene_hgnc_id": 15930,
"gene_symbol": "SLC2A4RG",
"hgvs_c": "n.300_302delGGAinsAGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000474248.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 518,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000485897.5",
"gene_hgnc_id": 15930,
"gene_symbol": "SLC2A4RG",
"hgvs_c": "n.163_165delGGAinsAGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000485897.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 637,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000491109.1",
"gene_hgnc_id": 15930,
"gene_symbol": "SLC2A4RG",
"hgvs_c": "n.-24_-22delGGAinsAGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000491109.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 15930,
"gene_symbol": "SLC2A4RG",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.866,
"pos": 63741380,
"ref": "GGA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_020062.4"
}
]
}